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(Press Release) — The doctors at Marianas Eye Institute, in collaboration with U.S. researches, have discovered a new gene that is the cause of an eye disease that affects families on Saipan.

The results of their research was recently published in the scientific journal, Molecular Vision. The article by the team that made the discovery is titled, “Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.”

Dr. David Khorram, the co-founder and prior ophthalmologist at Marianas Eye Institute, initiated the research over 20 years ago, when he noticed an eye disease affecting members of the same Saipan families. “It made sense that there would be a genetic basis for the disease because so many people in the family were affected,” explained Dr. Khorram, “So, with the permission of the family members, we collected blood samples and sent them to the premier genetic eye research center in the U.S.”

Marianas Eye Institute staff members pose for a group photo. MEI photo

Dr. Khorram explained that despite extensive genetic testing at that time, no genetic basis for the disease was found. “But we had a hunch that a gene that was responsible, and so the blood samples were put into storage, awaiting the development of new technologies.” It would take two decades for the technology to advance. In January 2015, Dr. Khorram received a call that the gene had been identified. “It was exciting, and at the same time humbling. Sometimes, I have to tell a rare patient that there is no known treatment for their disease, but I also tell them to not give up, because science is always moving forward and there is always hope. It is amazing for Marianas Eye Institute, a Saipan eye clinic and its patients to contribute to scientific discoveries, and the search for cures.”

Once a genetic defect is identified, attention can then be given to finding a cure. The discovery of this gene sets the stage for further research directed towards cure. Russ Quinn, the CEO of Marianas Eye Institute explained that it is an exciting time in ophthalmology. “The first experimental treatments involving gene therapy for eye disease are now taking place, so hope is there that in the coming years cures will be found,” said Quinn. “Our Saipan eye clinic has always worked to be on the forward edge of progress. We have been a member of the Diabetic Retinopathy Clinical Research Network, collaborating with centers around the world to improve the treatment of diabetic eye disease, and right now we are collaborating with specialists in Hawaii, Washington, D.C., and Atlanta, to report a new disease that our doctors discovered here on Saipan,” he explained. Dr. Khorram shared his final thoughts, “Science is a team effort, and even though I am no longer on Saipan, it’s a pleasure to be a part of these forward looking teams,” concluded Dr. Khorram.